DM-IMT - Kontrollierte, randomisierte, dreiarmige Interventionsstudie zur Sicherheit und Effektivität des regelmäßigen Atemmuskeltrainings bei Patienten mit Myotoner Dystrophie Typ 1

Heidsieck, Eva Marie (2024): DM-IMT - Kontrollierte, randomisierte, dreiarmige Interventionsstudie zur Sicherheit und Effektivität des regelmäßigen Atemmuskeltrainings bei Patienten mit Myotoner Dystrophie Typ 1. Dissertation, LMU München: Medizinische Fakultät

Abstract

Myotonic dystrophy type 1 is an autosomal dominant CTG trinucleotide disorder and counts as one of the most common hereditary muscle diseases with myotonia in adults. During the course of the disease, many patients develop a significant respiratory muscle weakness with progressive respiratory insufficiency, often leading to reduced quality of life, the need for mechanical ventilation and even death. There is currently no causal therapy for patients with DM1, so new approaches to alleviate symptoms and improve quality of life and participation are essential. The DM-IMT study is designed to provide the first relevant findings on the safety and effectiveness of regular respiratory muscle training for patients with DM1 and to enable a possible integration into future care and therapy recommendations for DM1 patients. This controlled, randomised, three-arm intervention trial enrolled 26 patients with confirmed DM1 and assigned them to one of three groups: inspiratory strength training, endurance training or no respiratory muscle training as a control group. Regular follow-up examinations were carried out to analyse changes in lung function parameters, blood gas analysis, muscular function tests, and impacts on life quality and muscle function in daily life. The study duration was nine months per participant, and data were collected from October 2019 to September 2020. The analysis of these data showed promising significant improvements in important lung function parameters. A significant improvement in maximal inspiratory pressure MIP was observed in both training groups, and the endurance training group also showed a significant increase in maximal voluntary ventilation MVV and a relevant improvement in forced vital capacity FVC. The results of the questionnaires used to identify and describe symptoms relevant to daily life did not show the same improvements as the lung function parameters. Still, a developed final questionnaire indicated a subjectively noticed improvement in the majority of participants. The stabilisation and improvement of important lung function parameters, positive effects on daily performance and the absence of relevant side effects support the achievement of the primary objective of the DM-IMT respiratory muscle study. The existing willingness to train and adequate compliance of this DM1 cohort suggest that the establishment of regular respiratory muscle training can be accepted and reliably performed by most patients. Due to relevant restrictions and appointment cancellations caused by the COVID-19 pandemic, corresponding analyses could not be carried out to the planned extent, and no statements about the temporal progression of the effects could be made. In summary, similar positive effects have been demonstrated compared to previous RMT studies for other neuromuscular disorders with slowly progressive respiratory muscle weakness. Regular respiratory muscle training appears useful, effective, and has low side effects for patients with myotonic dystrophy type 1. It may contribute to the stabilisation or improvement of diaphragm strength, as measured by maximum inspiratory pressure, and thus slowing down the progression of respiratory insufficiency. These reasons justify the goal of including respiratory muscle training in new care and therapy recommendations for symptom relief and disease progression retardation. However, further larger prospective studies are necessary to validate the long-term clinical benefits of these results and to refine and specify the formulation of these recommendations. Therefore, the scope could be to identify the time period, after which a significant effect can be expected from exercise and how to maintain this effect after stopping or interrupting regular respiratory muscle training. Furthermore, it should be clearly defined which type of training is most appropriate for which patients and whether the effect can be further enhanced by possible combinations of strength and endurance training and inspiratory and expiratory training.

• Dokumententyp: Dissertationen (Dissertation, LMU München)
• Themengebiete: 600 Technik, Medizin, angewandte Wissenschaften ; 600 Technik, Medizin, angewandte Wissenschaften > 610 Medizin und Gesundheit
• Fakultäten: Medizinische Fakultät
• Sprache der Hochschulschrift: Deutsch
• Datum der mündlichen Prüfung: 22. Oktober 2024
• 1. Bericht­erstatter:in: Schoser, Benedikt